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Haemophilia B: database of point mutations and short additions and deletions.

作者信息

Giannelli F, Green P M, High K A, Lozier J N, Lillicrap D P, Ludwig M, Olek K, Reitsma P H, Goossens M, Yoshioka A

机构信息

Paediatric Research Unit, Guy's Tower, London Bridge, London, UK.

出版信息

Nucleic Acids Res. 1990 Jul 25;18(14):4053-9. doi: 10.1093/nar/18.14.4053.

Abstract
摘要

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本文引用的文献

1
8
Blood clotting factor IX Niigata: substitution of alanine-390 by valine in the catalytic domain.
J Biochem. 1988 Dec;104(6):878-80. doi: 10.1093/oxfordjournals.jbchem.a122575.
9
Identification of a CpG mutation in the coagulation factor-IX gene by analysis of amplified DNA sequences.
Br J Haematol. 1988 Dec;70(4):411-6. doi: 10.1111/j.1365-2141.1988.tb02509.x.
10
A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.
EMBO J. 1988 Oct;7(10):3009-15. doi: 10.1002/j.1460-2075.1988.tb03164.x.

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